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Identification of a novel NOG mutation in a Chinese family with proximal symphalangism

✍ Scribed by Liu, Fei; Huang, Yinghao; Liu, Luying; Liang, Bo; Qu, Zhen; Huang, Gang; Li, Chang; Tian, Ronghua; Jiang, Zhuhui; Liu, Fucan; Yu, Xiaoyan; Huang, Yingjie; Liu, Jingyu; Tang, Zhaohui


Book ID
123588668
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
890 KB
Volume
429
Category
Article
ISSN
0009-8981

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Identification of a novel NOG gene mutat
✍ M. Mangino; E. Flex; M.C. Digilio; A. Giannotti; B. Dallapiccola πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 202 KB

## Symphalangism (SYM or SYM1 ) is an autosomal dominant disorder characterized by multiple joint fusions. The disease is caused by mutations of the NOG gene, that maps to chromosome 17q22. So far, only six independent NOG mutations have been identified. We have analysed an Italian family in which